Canonical Allele Identifier: CA2744584680

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836119_92836130del , CM000663.2:g.92836119_92836130del GRCh38
NC_000001.10:g.93301676_93301687del , CM000663.1:g.93301676_93301687del GRCh37
NC_000001.9:g.93074264_93074275del NCBI36
NG_011779.1:g.9083_9094del
NG_033051.1:g.130396_130407del
NG_011779.2:g.9134_9145del

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.325-71_325-60del (RPL5) MANE Select ENSP00000359345.2:n.325-71_325-60del
ENST00000645119.1:c.324+1206_324+1217del (RPL5) ENSP00000493811.1:n.324+1206_324+1217del
ENST00000645300.1:c.175-71_175-60del (RPL5) ENSP00000495589.1:n.175-71_175-60del
ENST00000645908.1:n.59-71_59-60del (RPL5)
ENST00000315741.5:c.175-71_175-60del (RPL5) ENSP00000359338.2:n.175-71_175-60del
ENST00000370321.7:c.325-71_325-60del (RPL5) ENSP00000359345.2:n.325-71_325-60del
ENST00000461952.1:n.1035-71_1035-60del (RPL5)
ENST00000470843.5:c.*287-71_*287-60del (RPL5) ENSP00000473675.1:n.*287-71_*287-60del
ENST00000615519.4:c.475-3093_475-3082del (DIPK1A) ENSP00000483279.1:n.475-3093_475-3082del
NM_000969.3:c.325-71_325-60del (RPL5) NP_000960.2:n.325-71_325-60del
NM_001252273.1:c.475-3093_475-3082del (DIPK1A) NP_001239202.1:n.475-3093_475-3082del
NM_000969.5:c.325-71_325-60del (RPL5) MANE Select NP_000960.2:n.325-71_325-60del
NR_146333.1:n.421-108_421-97del (RPL5)
NM_001252273.2:c.475-3093_475-3082del (DIPK1A) NP_001239202.1:n.475-3093_475-3082del